#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
CCT6P3	643180	broad.mit.edu	37	7	64530071	64530072	+	RNA	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:64530071_64530072insT	ENST00000426828.1	+	0	891_892				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GTGGCCCTGAATTCTTTTGAGG	0.406																																						ENST00000426828.1		NA																	0					NA																																														0							g.chr7:64530071_64530072insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530073_64530073dupT		False	False		Somatic	2						NR_033416.1		WXS	Illumina HiSeq	Phase_I					0	891_892	+			NA						RNA	INS	ENST00000426828.1	37																																																																																						0.406	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1	0			7:64530071
CCL7	6354	broad.mit.edu	37	17	32597292	32597292	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:32597292A>T	ENST00000378569.2	+	0	53				CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000394630.3_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7						cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGGAAGCCCATGCCCTCACC	0.547																																						ENST00000378569.2		NA																	0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7								chemokine (C-C motif) ligand 7							71.0	59.0	63.0					17																	32597292		2203	4300	6503			6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597292A>T	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889		17.37:g.32597292A>T		True	False		Somatic	0				CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000394630.3_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L		NM_006273.2	NP_006264.2	WXS	Illumina HiSeq	Phase_I	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	0	53	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	NA					Q569J6	Translation_Start_Site	SNP	ENST00000378569.2	37		CCDS11278.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184197	0.01620	.	.	ENSG00000108688	ENST00000378569;ENST00000394630;ENST00000394627	.	.	.	3.89	0.269	0.15631	.	10.005000	0.00166	N	0.000004	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12477	-1.0546	6	0.11182	T	0.66	.	5.9178	0.19065	0.5474:0.0:0.4526:0.0	.	.	.	.	L	5	.	ENSP00000367832:M5L	M	+	1	0	CCL7	29621405	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.026000	0.01434	-0.061000	0.13110	0.528000	0.53228	ATG		0.547	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	0	NM_006273		17:32597292
WDR54	84058	broad.mit.edu	37	2	74654657	74654657	+	IGR	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:74654657G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Silent_p.I370I|RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000233330.6_Silent_p.I333I	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACTGGTTACTGATGCTTAGGG	0.557																																						ENST00000305557.5		NA																	0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1108-1110)atC>atT		rhotekin							195.0	205.0	202.0					2																	74654657		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654657G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654657G>A		False	False		Somatic	0				RTKN_ENST00000233330.6_Silent_p.I333I|RTKN_ENST00000272430.5_Silent_p.I383I	p.I370I	NM_033046.2	NP_149035.1	WXS	Illumina HiSeq	Phase_I	Q9BST9	RTKN_HUMAN			11	1695	-			383			PH.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1110C>T	CCDS1940.1																																																																																				0.557	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	0	NM_032118		2:74654657
SAMD9	54809	broad.mit.edu	37	7	92731348	92731348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:92731348G>T	ENST00000379958.2	-	3	4332	c.4063C>A	c.(4063-4065)Caa>Aaa	p.Q1355K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1355						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCATCCTCTTGACTTTTGATA	0.353																																						ENST00000379958.2		NA																	0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4063-4065)Caa>Aaa		sterile alpha motif domain containing 9							96.0	102.0	100.0					7																	92731348		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92731348G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4063C>A	7.37:g.92731348G>T	ENSP00000369292:p.Gln1355Lys	False	False		Somatic	0					p.Q1355K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	WXS	Illumina HiSeq	Phase_I	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4332	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1355					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4063C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211119	0.09757	.	.	ENSG00000205413	ENST00000379958	T	0.22743	1.94	4.41	4.41	0.53225	.	0.467007	0.18738	N	0.132534	T	0.14141	0.0342	N	0.25647	0.755	0.09310	N	0.999993	B	0.33694	0.421	B	0.29862	0.108	T	0.13495	-1.0507	10	0.10636	T	0.68	-3.4161	16.0645	0.80861	0.0:0.0:1.0:0.0	.	1355	Q5K651	SAMD9_HUMAN	K	1355	ENSP00000369292:Q1355K	ENSP00000369292:Q1355K	Q	-	1	0	SAMD9	92569284	0.011000	0.17503	0.073000	0.20177	0.115000	0.19883	1.580000	0.36547	2.424000	0.82194	0.603000	0.83216	CAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	0	NM_017654		7:92731348
BATF	10538	broad.mit.edu	37	14	75989073	75989073	+	Silent	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:75989073T>G	ENST00000286639.6	+	1	306	c.48T>G	c.(46-48)ccT>ccG	p.P16P	BATF_ENST00000555504.1_Silent_p.P16P|BATF_ENST00000555795.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	16					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCTCTCCTCCCCCTGGCA	0.587																																						ENST00000286639.6		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(46-48)ccT>ccG		basic leucine zipper transcription factor, ATF-like							82.0	75.0	77.0					14																	75989073		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:75989073T>G	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.48T>G	14.37:g.75989073T>G		True	False		Somatic	0				BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	p.P16P	NM_006399.3	NP_006390.1	WXS	Illumina HiSeq	Phase_I	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	1	306	+			16						Silent	SNP	ENST00000286639.6	37	c.48T>G	CCDS9843.1																																																																																				0.587	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	0	NM_006399		14:75989073
ADAMTSL3	57188	broad.mit.edu	37	15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1336I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTTGAAGAGAGGAGGATCT	0.428																																						ENST00000286744.5		NA																	1	Substitution - Missense(1)	p.R1336I(1)	endometrium(1)	NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4006-4008)aGa>aCa		ADAMTS-like 3							217.0	190.0	199.0					15																	84683327		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683327G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4007G>C	15.37:g.84683327G>C	ENSP00000286744:p.Arg1336Thr	True	False		Somatic	0				ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	p.R1336T	NM_207517.2	NP_997400.2	WXS	Illumina HiSeq	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4231	+			1336			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4007G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420685	0.25639	.	.	ENSG00000156218	ENST00000286744	T	0.27402	1.67	4.7	1.68	0.24146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739929	0.11659	N	0.541996	T	0.15696	0.0378	N	0.17082	0.46	0.26572	N	0.973534	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.007	T	0.31280	-0.9949	10	0.22109	T	0.4	.	4.2489	0.10684	0.4199:0.1664:0.4137:0.0	.	1336;1336	P82987-2;P82987	.;ATL3_HUMAN	T	1336	ENSP00000286744:R1336T	ENSP00000286744:R1336T	R	+	2	0	ADAMTSL3	82474331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.900000	0.28431	0.048000	0.15891	-0.266000	0.10368	AGA		0.428	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	0	NM_207517		15:84683327
DOCK3	1795	broad.mit.edu	37	3	51312611	51312611	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:51312611T>G	ENST00000266037.9	+	25	2673	c.2650T>G	c.(2650-2652)Ttc>Gtc	p.F884V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	884					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGCAGCATCTTCTCCATCGT	0.537																																						ENST00000266037.9		NA																	0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2650-2652)Ttc>Gtc		dedicator of cytokinesis 3							151.0	152.0	151.0					3																	51312611		1983	4158	6141	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51312611T>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2650T>G	3.37:g.51312611T>G	ENSP00000266037:p.Phe884Val	False	False		Somatic	0					p.F884V	NM_004947.4	NP_004938.1	WXS	Illumina HiSeq	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	25	2673	+			884					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2650T>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797966	0.90538	.	.	ENSG00000088538	ENST00000266037	T	0.65364	-0.15	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.66939	2.045	0.80722	D	1	P	0.51933	0.949	P	0.48952	0.596	T	0.69423	-0.5149	10	0.39692	T	0.17	.	15.8727	0.79132	0.0:0.0:0.0:1.0	.	884	Q8IZD9	DOCK3_HUMAN	V	884	ENSP00000266037:F884V	ENSP00000266037:F884V	F	+	1	0	DOCK3	51287651	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.036000	0.88901	2.139000	0.66308	0.528000	0.53228	TTC		0.537	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	0	NM_004947		3:51312611
CACNA1E	777	broad.mit.edu	37	1	181707541	181707541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:181707541C>A	ENST00000367573.2	+	24	3591	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1197					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCGTGTTCACCTTTGAGA	0.468																																						ENST00000526775.1		NA																	0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3532-3534)ttC>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							262.0	271.0	268.0					1																	181707541		1920	4133	6053	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707541C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3591C>A	1.37:g.181707541C>A	ENSP00000356545:p.Phe1197Leu	False	False		Somatic	0				CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L	p.F1178L	NM_001205294.1	NP_001192223.1	WXS	Illumina HiSeq	Phase_I	Q15878	CAC1E_HUMAN			23	3699	+			1197					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3534C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615265	0.66672	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.49	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99535	4.615	0.80722	D	1	P;P;D	0.61697	0.751;0.576;0.99	P;P;D	0.72982	0.613;0.542;0.979	D	0.97750	1.0214	10	0.87932	D	0	.	10.6869	0.45848	0.0:0.842:0.0:0.158	.	1178;1197;1197	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1197;1178;1148;1129;804;1178;1197	ENSP00000356542:F1197L;ENSP00000434814:F1178L;ENSP00000350183:F1148L;ENSP00000351101:F1129L;ENSP00000356539:F804L;ENSP00000353222:F1178L;ENSP00000356545:F1197L	ENSP00000350183:F1148L	F	+	3	2	CACNA1E	179974164	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.823000	0.62694	1.420000	0.47138	0.655000	0.94253	TTC		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	0	NM_000721		1:181707541
TBC1D1	23216	broad.mit.edu	37	4	38134830	38134830	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:38134830C>T	ENST00000261439.4	+	19	3613	c.3258C>T	c.(3256-3258)acC>acT	p.T1086T	TBC1D1_ENST00000508802.1_Silent_p.T1077T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1086					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TAGAGAAAACCAACAGCAGCT	0.393																																						ENST00000261439.4		NA																	0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(3256-3258)acC>acT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							111.0	103.0	106.0					4																	38134830		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38134830C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3258C>T	4.37:g.38134830C>T		False	False		Somatic	0				TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1077T	p.T1086T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	WXS	Illumina HiSeq	Phase_I	Q86TI0	TBCD1_HUMAN			19	3613	+			1086					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3258C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197786	0.22037	.	.	ENSG00000065882	ENST00000510573	.	.	.	4.97	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4575	6.939	0.24483	0.2837:0.6293:0.0:0.087	.	.	.	.	X	774	.	.	Q	+	1	0	TBC1D1	37811225	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.306000	0.43673	1.445000	0.47624	0.655000	0.94253	CAA		0.393	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	0	NM_015173		4:38134830
CACNG2	10369	broad.mit.edu	37	22	37098459	37098459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:37098459C>T	ENST00000300105.6	-	1	1144	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	55					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ATAACTTCCTCGTTCTTTTTG	0.517																																						ENST00000300105.6		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(163-165)Gag>Aag		calcium channel, voltage-dependent, gamma subunit 2							246.0	204.0	218.0					22																	37098459		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098459C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.163G>A	22.37:g.37098459C>T	ENSP00000300105:p.Glu55Lys	False	False		Somatic	0					p.E55K	NM_006078.3	NP_006069.1	WXS	Illumina HiSeq	Phase_I	Q9Y698	CCG2_HUMAN			1	1144	-			55					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.163G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145171	0.57044	.	.	ENSG00000166862	ENST00000300105	T	0.37584	1.19	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.12746	0.255	0.58432	D	0.999997	D	0.52996	0.957	P	0.44394	0.448	T	0.04281	-1.0963	10	0.06891	T	0.86	-10.3973	17.3494	0.87318	0.0:1.0:0.0:0.0	.	55	Q9Y698	CCG2_HUMAN	K	55	ENSP00000300105:E55K	ENSP00000300105:E55K	E	-	1	0	CACNG2	35428405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.134000	0.65973	0.546000	0.68486	GAG		0.517	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2	0			22:37098459
ZGPAT	84619	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|LIME1_ENST00000309546.3_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000490623.2		NA																	0					NA						c.(505-507)Acg>Gcg									135.0	130.0	132.0					20																	62365008		2203	4300	6503	SO:0001583	missense	0							g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly	True	False		Somatic	0				ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000328969.5_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR	p.T169A			WXS	Illumina HiSeq	Phase_I					3	505	+			NA					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.505A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	0	NM_181484		20:62365008
ATRX	546	broad.mit.edu	37	X	76937446	76937446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:76937446G>T	ENST00000373344.5	-	9	3516	c.3302C>A	c.(3301-3303)tCa>tAa	p.S1101*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1101					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTCTTCCTTGAACTCTTTCC	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5		NA		Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3301-3303)tCa>tAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						120.0	129.0	126.0					X																	76937446		2203	4289	6492	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937446G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3302C>A	X.37:g.76937446G>T	ENSP00000362441:p.Ser1101*	False	False		Somatic	0				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*	p.S1101*	NM_000489.3	NP_000480.3	WXS	Illumina HiSeq	Phase_I	P46100	ATRX_HUMAN			9	3516	-			1101					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3302C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	44	10.823445	0.99473	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.65	5.65	0.86999	.	0.631889	0.14695	N	0.303893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4388	16.8866	0.86077	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;1063;1028	.	ENSP00000362441:S1101X	S	-	2	0	ATRX	76824102	0.200000	0.23398	0.858000	0.33744	0.899000	0.52679	2.515000	0.45512	2.364000	0.80123	0.513000	0.50165	TCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	0	NM_000489		X:76937446
FAM135B	51059	broad.mit.edu	37	8	139144922	139144922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:139144922C>A	ENST00000395297.1	-	20	4305	c.4135G>T	c.(4135-4137)Ggc>Tgc	p.G1379C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGGCTCGGCCGATCAGGGTG	0.542										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4135-4137)Ggc>Tgc		family with sequence similarity 135, member B							193.0	205.0	201.0					8																	139144922		1976	4153	6129	SO:0001583	missense	51059							g.chr8:139144922C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4135G>T	8.37:g.139144922C>A	ENSP00000378710:p.Gly1379Cys	False	False	HNSCC(54;0.14)	Somatic	0					p.G1379C	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4305	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1379					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4135G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	32	5.192688	0.94960	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80973	-0.1143	10	0.87932	D	0	-24.2159	18.9188	0.92516	0.0:1.0:0.0:0.0	.	1379	Q49AJ0	F135B_HUMAN	C	1379	ENSP00000378710:G1379C	ENSP00000378710:G1379C	G	-	1	0	FAM135B	139214104	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.786000	0.85741	2.732000	0.93576	0.591000	0.81541	GGC		0.542	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139144922
GPR125	166647	broad.mit.edu	37	4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468																																						ENST00000334304.5		NA																	1	Substitution - Missense(1)	p.R577L(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1729-1731)cGg>cTg		G protein-coupled receptor 125							197.0	202.0	200.0					4																	22422588		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422588C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1730G>T	4.37:g.22422588C>A	ENSP00000334952:p.Arg577Leu	True	False		Somatic	0				GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L	p.R577L	NM_145290.3	NP_660333.2	WXS	Illumina HiSeq	Phase_I	Q8IWK6	GP125_HUMAN			12	1999	-		Breast(46;0.198)	577					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1730G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341855	0.41498	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56611	0.61;0.45	5.1	5.1	0.69264	.	0.165023	0.41097	D	0.000942	T	0.58652	0.2137	L	0.29908	0.895	0.44762	D	0.997763	B;B;D;D	0.63880	0.001;0.018;0.992;0.993	B;B;D;D	0.74023	0.006;0.008;0.969;0.982	T	0.49000	-0.8984	10	0.06891	T	0.86	-16.2877	18.8818	0.92358	0.0:1.0:0.0:0.0	.	452;577;351;577	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	577;351;577	ENSP00000334952:R577L;ENSP00000421006:R577L	ENSP00000334952:R577L	R	-	2	0	GPR125	22031686	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.527000	0.67123	2.515000	0.84797	0.655000	0.94253	CGG		0.468	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	0			4:22422588
OR4C15	81309	broad.mit.edu	37	11	55322649	55322649	+	Silent	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322649T>A	ENST00000314644.2	+	1	867	c.867T>A	c.(865-867)gcT>gcA	p.A289A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGGAAAGCTCTCTCCACCT	0.438										HNSCC(20;0.049)																												ENST00000314644.2		NA																	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(865-867)gcT>gcA		olfactory receptor, family 4, subfamily C, member 15							232.0	216.0	222.0					11																	55322649		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322649T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.867T>A	11.37:g.55322649T>A		True	False	HNSCC(20;0.049)	Somatic	0					p.A289A	NM_001001920.1	NP_001001920.1	WXS	Illumina HiSeq	Phase_I	Q8NGM1	OR4CF_HUMAN			1	867	+			235					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.867T>A	CCDS31501.1																																																																																				0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	0	NM_001001920		11:55322649
FAR2	55711	broad.mit.edu	37	12	29446305	29446305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:29446305C>A	ENST00000536681.3	+	3	508	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_5'UTR|FAR2_ENST00000182377.4_Missense_Mutation_p.Q88K	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	88					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AGATCTCAATCAGAATGACTT	0.383																																						ENST00000536681.3		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(262-264)Cag>Aag		fatty acyl CoA reductase 2							145.0	140.0	142.0					12																	29446305		2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29446305C>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.262C>A	12.37:g.29446305C>A	ENSP00000443291:p.Gln88Lys	False	False		Somatic	0				RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_5'UTR|FAR2_ENST00000182377.4_Missense_Mutation_p.Q88K	p.Q88K	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	WXS	Illumina HiSeq	Phase_I	Q96K12	FACR2_HUMAN			3	508	+			NA					F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.262C>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670175	0.47677	.	.	ENSG00000064763	ENST00000536681;ENST00000182377	T;T	0.41065	1.01;1.01	5.43	4.45	0.53987	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.170663	0.53938	D	0.000053	T	0.28566	0.0707	N	0.21373	0.66	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.06303	-1.0834	10	0.15952	T	0.53	-25.1913	14.4758	0.67546	0.1571:0.8429:0.0:0.0	.	88	Q96K12	FACR2_HUMAN	K	88	ENSP00000443291:Q88K;ENSP00000182377:Q88K	ENSP00000182377:Q88K	Q	+	1	0	FAR2	29337572	0.999000	0.42202	0.362000	0.25862	0.981000	0.71138	4.144000	0.58057	2.547000	0.85894	0.655000	0.94253	CAG		0.383	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	0	NM_018099		12:29446305
JAGN1	84522	broad.mit.edu	37	3	9934901	9934901	+	Missense_Mutation	SNP	G	G	A	rs542419840		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:9934901G>A	ENST00000307768.4	+	2	561	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CAGCTCTACCGCCATGGCAAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		22334	0.0		0.0	False		,,,				2504	0.001					ENST00000307768.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(391-393)cGc>cAc		jagunal homolog 1 (Drosophila)							239.0	150.0	180.0					3																	9934901		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934901G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.392G>A	3.37:g.9934901G>A	ENSP00000306106:p.Arg131His	False	False		Somatic	0					p.R131H	NM_032492.3	NP_115881.3	WXS	Illumina HiSeq	Phase_I	Q8N5M9	JAGN1_HUMAN			2	561	+	Medulloblastoma(99;0.227)		131						Missense_Mutation	SNP	ENST00000307768.4	37	c.392G>A	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014448|4.014448	0.75161|0.75161	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	3.76|3.76	0.43208|0.43208	.|.	.|0.054409	.|0.64402	.|D	.|0.000001	T|T	0.74099|0.74099	0.3672|0.3672	M|M	0.84082|0.84082	2.675|2.675	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.63880	.|0.993	.|P	.|0.55713	.|0.782	T|T	0.78671|0.78671	-0.2113|-0.2113	6|9	0.13853|0.66056	T|D	0.58|0.02	-22.0269|-22.0269	11.9619|11.9619	0.53013|0.53013	0.071:0.0:0.7989:0.13|0.071:0.0:0.7989:0.13	.|.	.|131	.|Q8N5M9	.|JAGN1_HUMAN	T|H	130|131	.|.	ENSP00000442889:A130T|ENSP00000306106:R131H	A|R	+|+	1|2	0|0	JAGN1|JAGN1	9909901|9909901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.496000|7.496000	0.81526|0.81526	1.434000|1.434000	0.47414|0.47414	-0.339000|-0.339000	0.08088|0.08088	GCC|CGC		0.527	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	0	NM_032492		3:9934901
TEP1	7011	broad.mit.edu	37	14	20841221	20841221	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:20841221T>C	ENST00000262715.5	-	48	6940	c.6900A>G	c.(6898-6900)caA>caG	p.Q2300Q	TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2300					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTCCCCAGCTTGATTTCCAG	0.522																																						ENST00000262715.5		NA																	0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6898-6900)caA>caG		telomerase-associated protein 1							77.0	77.0	77.0					14																	20841221		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841221T>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6900A>G	14.37:g.20841221T>C		False	False		Somatic	0				TEP1_ENST00000545983.1_Silent_p.Q638Q|TEP1_ENST00000556935.1_Silent_p.Q2192Q	p.Q2300Q	NM_007110.4	NP_009041.2	WXS	Illumina HiSeq	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6940	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2300					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6900A>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	8.134	0.783739	0.16189	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	0.76	0.18442	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21719	N	0.999572	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-0.0235	7.2173	0.25967	0.0:0.4669:0.0:0.5331	.	.	.	.	G	7	.	.	S	-	1	0	TEP1	19911061	0.053000	0.20554	0.110000	0.21437	0.973000	0.67179	0.124000	0.15728	0.135000	0.18707	0.533000	0.62120	AGC		0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	0	NM_007110		14:20841221
BLOC1S3	388552	broad.mit.edu	37	19	45682658	45682658	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:45682658A>C	ENST00000433642.2	+	2	200	c.104A>C	c.(103-105)gAg>gCg	p.E35A	TRAPPC6A_ENST00000585934.1_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000006275.4_5'Flank|TRAPPC6A_ENST00000592647.1_5'Flank|TRAPPC6A_ENST00000588062.1_5'Flank|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	35					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGTCGGAGGAGGAGGAG	0.761									Hermansky-Pudlak syndrome																													ENST00000433642.2		NA																	0				ovary(1)|skin(1)	2						c.(103-105)gAg>gCg		biogenesis of lysosomal organelles complex-1, subunit 3							9.0	10.0	10.0					19																	45682658		2158	4240	6398	SO:0001583	missense	388552	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	g.chr19:45682658A>C	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20914	protein-coding gene	gene with protein product	"""BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"""	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.104A>C	19.37:g.45682658A>C	ENSP00000393840:p.Glu35Ala	True	False		Somatic	0				BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	p.E35A	NM_212550.3	NP_997715.1	WXS	Illumina HiSeq	Phase_I	Q6QNY0	BL1S3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	2	200	+		Ovarian(192;0.0728)|all_neural(266;0.112)	35					B2RXB8	Missense_Mutation	SNP	ENST00000433642.2	37	c.104A>C	CCDS12656.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381951	0.42207	.	.	ENSG00000189114	ENST00000433642	.	.	.	2.93	1.77	0.24775	.	0.624228	0.12947	N	0.426136	T	0.16642	0.0400	N	0.08118	0	0.26487	N	0.975019	B	0.28128	0.201	B	0.20767	0.031	T	0.13980	-1.0489	9	0.62326	D	0.03	.	6.2471	0.20825	0.7472:0.2528:0.0:0.0	.	35	Q6QNY0	BL1S3_HUMAN	A	35	.	ENSP00000393840:E35A	E	+	2	0	BLOC1S3	50374498	0.697000	0.27767	0.994000	0.49952	0.982000	0.71751	0.657000	0.24963	1.121000	0.41925	0.374000	0.22700	GAG		0.761	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	0	NM_212550		19:45682658
SDCCAG8	10806	broad.mit.edu	37	1	243507631	243507631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:243507631C>A	ENST00000366541.3	+	12	1589	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|MIR4677_ENST00000584153.1_RNA	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATTAAAGATCAGGTAAGAGA	0.353																																						ENST00000366541.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1471-1473)Cag>Aag		serologically defined colon cancer antigen 8							90.0	86.0	87.0					1																	243507631		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507631C>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1471C>A	1.37:g.243507631C>A	ENSP00000355499:p.Gln491Lys	False	False		Somatic	0				SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	p.Q491K	NM_006642.3	NP_006633.1	WXS	Illumina HiSeq	Phase_I	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1589	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	491			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1471C>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072404	0.55646	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.57273	0.7;0.66;0.66;0.41	6.07	5.16	0.70880	.	0.129373	0.52532	D	0.000063	T	0.39886	0.1095	L	0.29908	0.895	0.47245	D	0.999362	B;B	0.25441	0.075;0.126	B;B	0.28638	0.092;0.092	T	0.19614	-1.0300	10	0.15499	T	0.54	-7.4048	12.343	0.55105	0.1339:0.7375:0.1286:0.0	.	448;491	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	448;491;346;271	ENSP00000348137:Q448K;ENSP00000355499:Q491K;ENSP00000341260:Q346K;ENSP00000410200:Q271K	ENSP00000341260:Q346K	Q	+	1	0	SDCCAG8	241574254	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	1.566000	0.49654	0.585000	0.79938	CAG		0.353	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	0	NM_006642		1:243507631
KRT28	162605	broad.mit.edu	37	17	38949428	38949428	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:38949428T>A	ENST00000306658.7	-	7	1296	c.1231A>T	c.(1231-1233)Agc>Tgc	p.S411C		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCCAGGGCTTCCTGATCCA	0.313																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1231-1233)Agc>Tgc		keratin 28							26.0	26.0	26.0					17																	38949428		2200	4300	6500	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38949428T>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1231A>T	17.37:g.38949428T>A	ENSP00000305263:p.Ser411Cys	False	False		Somatic	0					p.S411C	NM_181535.3	NP_853513.2	WXS	Illumina HiSeq	Phase_I	Q7Z3Y7	K1C28_HUMAN			7	1296	-		Breast(137;0.000301)	411			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1231A>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471242	0.43942	.	.	ENSG00000173908	ENST00000306658	D	0.83419	-1.72	5.35	0.343	0.16001	.	0.768911	0.12060	N	0.503255	T	0.76586	0.4008	L	0.38175	1.15	0.22081	N	0.999376	P	0.35192	0.489	B	0.41299	0.353	T	0.66968	-0.5789	10	0.62326	D	0.03	.	7.4993	0.27509	0.0:0.4287:0.0:0.5713	.	411	Q7Z3Y7	K1C28_HUMAN	C	411	ENSP00000305263:S411C	ENSP00000305263:S411C	S	-	1	0	KRT28	36202954	0.023000	0.18921	0.940000	0.37924	0.992000	0.81027	-0.298000	0.08265	0.108000	0.17862	0.533000	0.62120	AGC		0.313	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	0	NM_181535		17:38949428
OR4C15	81309	broad.mit.edu	37	11	55322650	55322650	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322650C>A	ENST00000314644.2	+	1	868	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGGAAAGCTCTCTCCACCTG	0.433										HNSCC(20;0.049)																												ENST00000314644.2		NA																	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(868-870)Ctc>Atc		olfactory receptor, family 4, subfamily C, member 15							234.0	217.0	223.0					11																	55322650		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322650C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.868C>A	11.37:g.55322650C>A	ENSP00000324958:p.Leu290Ile	True	False	HNSCC(20;0.049)	Somatic	0					p.L290I	NM_001001920.1	NP_001001920.1	WXS	Illumina HiSeq	Phase_I	Q8NGM1	OR4CF_HUMAN			1	868	+			236					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.868C>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141818	0.37825	.	.	ENSG00000181939	ENST00000314644	T	0.00137	8.68	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.81682	2.555	0.25891	N	0.983471	P	0.44195	0.828	P	0.48524	0.58	T	0.42965	-0.9420	9	0.87932	D	0	.	9.2831	0.37740	0.0:0.9041:0.0:0.0959	.	236	Q8NGM1	OR4CF_HUMAN	I	290	ENSP00000324958:L290I	ENSP00000324958:L290I	L	+	1	0	OR4C15	55079226	0.000000	0.05858	0.971000	0.41717	0.282000	0.26991	-0.491000	0.06474	2.608000	0.88229	0.385000	0.25706	CTC		0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	0	NM_001001920		11:55322650
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	0	XM_929931		2:107049681
ACTL6A	86	broad.mit.edu	37	3	179291168	179291168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:179291168G>A	ENST00000429709.2	+	4	502	c.289G>A	c.(289-291)Gat>Aat	p.D97N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	97					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGAAGACTGGGATAGTTTCCA	0.353																																						ENST00000429709.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(289-291)Gat>Aat		actin-like 6A							87.0	86.0	86.0					3																	179291168		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291168G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.289G>A	3.37:g.179291168G>A	ENSP00000397552:p.Asp97Asn	True	False		Somatic	0				ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	p.D97N	NM_004301.3	NP_004292.1	WXS	Illumina HiSeq	Phase_I	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	502	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		97					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.289G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398826	0.96030	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95853	-3.83;-3.83;-3.83	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.64260	1.97	0.80722	D	1	D	0.52996	0.957	P	0.53954	0.738	D	0.96821	0.9604	10	0.87932	D	0	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	97	O96019	ACL6A_HUMAN	N	97;55;55	ENSP00000397552:D97N;ENSP00000394014:D55N;ENSP00000376430:D55N	ENSP00000376430:D55N	D	+	1	0	ACTL6A	180773862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.686000	0.98664	2.625000	0.88918	0.555000	0.69702	GAT		0.353	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	0	NM_004301		3:179291168
EML3	256364	broad.mit.edu	37	11	62370095	62370095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:62370095G>A	ENST00000394773.2	-	22	2850	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000494176.2_Silent_p.H783H|EML3_ENST00000278845.4_Missense_Mutation_p.T849M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	848						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCGTCGTGCGTGAATCGGAC	0.746																																						ENST00000394773.2		NA																	0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2542-2544)aCg>aTg		echinoderm microtubule associated protein like 3							14.0	10.0	11.0					11																	62370095		2136	4209	6345	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62370095G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2543C>T	11.37:g.62370095G>A	ENSP00000378254:p.Thr848Met	True	False		Somatic	0				EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000494176.2_Silent_p.H783H|EML3_ENST00000278845.4_Missense_Mutation_p.T849M|EML3_ENST00000531557.1_Missense_Mutation_p.T631M	p.T848M	NM_153265.2	NP_694997.2	WXS	Illumina HiSeq	Phase_I	Q32P44	EMAL3_HUMAN			22	2850	-			848					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2543C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126410|4.126410	0.77549|0.77549	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000439994;ENST00000394773;ENST00000278845;ENST00000531557	.|T;T;T;T	.|0.41400	.|2.28;1.52;1.0;1.0	4.96|4.96	4.96|4.96	0.65561|0.65561	.|WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.|0.511488	.|0.19627	.|N	.|0.109775	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.995;0.882;0.999	.|P;B;D	.|0.66351	.|0.832;0.325;0.943	T|T	0.50775|0.50775	-0.8788|-0.8788	5|10	.|0.42905	.|T	.|0.14	-32.5046|-32.5046	16.0654|16.0654	0.80867|0.80867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|848;631;849	.|Q32P44;G3V195;B7WPE2	.|EMAL3_HUMAN;.;.	C|M	806|89;848;849;631	.|ENSP00000409611:T89M;ENSP00000378254:T848M;ENSP00000278845:T849M;ENSP00000433417:T631M	.|ENSP00000278845:T849M	R|T	-|-	1|2	0|0	EML3|EML3	62126671|62126671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.027000|3.027000	0.49697|0.49697	2.472000|2.472000	0.83506|0.83506	0.462000|0.462000	0.41574|0.41574	CGC|ACG		0.746	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	0	NM_153265		11:62370095
CHST10	9486	broad.mit.edu	37	2	101010109	101010109	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:101010109T>C	ENST00000264249.3	-	7	1054	c.669A>G	c.(667-669)agA>agG	p.R223R	CHST10_ENST00000542617.1_Silent_p.R271R|CHST10_ENST00000409701.1_Silent_p.R223R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	223					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCCTGTATTTTCTGATGATGC	0.483																																						ENST00000264249.3		NA																	0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(667-669)agA>agG		carbohydrate sulfotransferase 10							145.0	146.0	146.0					2																	101010109		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010109T>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.669A>G	2.37:g.101010109T>C		True	False		Somatic	0				CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	p.R223R	NM_004854.4	NP_004845.1	WXS	Illumina HiSeq	Phase_I	O43529	CHSTA_HUMAN			7	1054	-			223					Q53T18	Silent	SNP	ENST00000264249.3	37	c.669A>G	CCDS2047.1																																																																																				0.483	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	0	NM_004854		2:101010109
FAM134B	54463	broad.mit.edu	37	5	16479052	16479052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:16479052C>A	ENST00000306320.9	-	6	801	c.715G>T	c.(715-717)Gga>Tga	p.G239*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	239					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATTTTTTGTCCAATATCATTA	0.343																																						ENST00000306320.9		NA																	0				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(715-717)Gga>Tga		family with sequence similarity 134, member B							63.0	58.0	60.0					5																	16479052		1817	4064	5881	SO:0001587	stop_gained	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16479052C>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.715G>T	5.37:g.16479052C>A	ENSP00000304642:p.Gly239*	False	False		Somatic	0				FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	p.G239*	NM_001034850.2	NP_001030022.1	WXS	Illumina HiSeq	Phase_I	Q9H6L5	F134B_HUMAN			6	801	-			239					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Nonsense_Mutation	SNP	ENST00000306320.9	37	c.715G>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	40	8.391096	0.98791	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	.	.	.	5.61	5.61	0.85477	.	0.234210	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.3758	19.6408	0.95757	0.0:1.0:0.0:0.0	.	.	.	.	X	98;239	.	ENSP00000304642:G239X	G	-	1	0	FAM134B	16532052	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.164000	0.64954	2.658000	0.90341	0.585000	0.79938	GGA		0.343	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	0	NM_001034850		5:16479052
UBBP4	23666	broad.mit.edu	37	17	21730846	21730846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:21730846C>T	ENST00000578713.1	+	1	152	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50W|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGGCAAGCAGCGGGAAGATGG	0.517																																						ENST00000584755.1		NA																	0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)Cgg>Tgg																																						SO:0001583	missense	0							g.chr17:21730846C>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.148C>T	17.37:g.21730846C>T	ENSP00000464265:p.Arg50Trp	True	False		Somatic	0				UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50W|UBBP4_ENST00000584398.1_Intron	p.R50W			WXS	Illumina HiSeq	Phase_I					2	545	+			NA						Missense_Mutation	SNP	ENST00000578713.1	37	c.148C>T																																																																																					0.517	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2	0			17:21730846
ERICH6	131831	broad.mit.edu	37	3	150391782	150391782	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:150391782T>G	ENST00000295910.6	-	11	1356	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTCAGAAACTTGCTCCCATG	0.333																																						ENST00000295910.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1303-1305)aAg>aCg		family with sequence similarity 194, member A							155.0	150.0	151.0					3																	150391782		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150391782T>G																												ENST00000295910.6:c.1304A>C	3.37:g.150391782T>G	ENSP00000295910:p.Lys435Thr	False	False		Somatic	0				FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	p.K435T	NM_152394.3	NP_689607.2	WXS	Illumina HiSeq	Phase_I	Q7L0X2	F194A_HUMAN			11	1356	-			435						Missense_Mutation	SNP	ENST00000295910.6	37	c.1304A>C	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306745	0.60305	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12984	2.63;2.63	4.94	4.94	0.65067	.	0.220254	0.31461	N	0.007604	T	0.25457	0.0619	L	0.45228	1.405	0.30174	N	0.801058	D	0.76494	0.999	D	0.79784	0.993	T	0.05131	-1.0904	10	0.46703	T	0.11	-12.9558	8.3833	0.32486	0.0:0.0893:0.0:0.9107	.	435	Q7L0X2	F194A_HUMAN	T	435;289;393	ENSP00000295910:K435T;ENSP00000419366:K289T	ENSP00000295910:K435T	K	-	2	0	FAM194A	151874472	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.661000	0.54503	2.053000	0.61076	0.533000	0.62120	AAG		0.333	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1	0			3:150391782
CXorf21	80231	broad.mit.edu	37	X	30577624	30577624	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:30577624A>G	ENST00000378962.3	-	3	1171	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TAATTTCAGTAATTTCAGTTG	0.378																																						ENST00000378962.3		NA																	0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(847-849)atT>atC		chromosome X open reading frame 21							78.0	68.0	71.0					X																	30577624		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577624A>G	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.849T>C	X.37:g.30577624A>G		True	False		Somatic	0					p.I283I	NM_025159.2	NP_079435.1	WXS	Illumina HiSeq	Phase_I	Q9HAI6	CX021_HUMAN			3	1171	-			283						Silent	SNP	ENST00000378962.3	37	c.849T>C	CCDS14224.1																																																																																				0.378	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	0	NM_025159		X:30577624
AKAP9	10142	broad.mit.edu	37	7	91736667	91736667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:91736667C>A	ENST00000359028.2	+	48	11714	c.11489C>A	c.(11488-11490)cCa>cAa	p.P3830Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3830					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGGAGAACCAAGACATACT	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11488-11490)cCa>cAa		A kinase (PRKA) anchor protein 9							151.0	149.0	149.0					7																	91736667		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736667C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11489C>A	7.37:g.91736667C>A	ENSP00000351922:p.Pro3830Gln	False	False		Somatic	0				AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q	p.P3830Q			WXS	Illumina HiSeq	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11714	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3830					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11489C>A		.	.	.	.	.	.	.	.	.	.	C	8.416	0.845249	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03301	4.08;4.08;4.06;3.98	5.41	2.32	0.28847	.	0.000000	0.37219	N	0.002189	T	0.01835	0.0058	N	0.02539	-0.55	0.31229	N	0.696541	B;B;B;B;B	0.20671	0.002;0.047;0.028;0.047;0.047	B;B;B;B;B	0.16289	0.004;0.015;0.007;0.015;0.015	T	0.24905	-1.0147	10	0.33141	T	0.24	.	13.1965	0.59740	0.6587:0.3413:0.0:0.0	.	1101;3830;3830;3826;3818	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Q	3826;3830;3776;3830;1672	ENSP00000348573:P3826Q;ENSP00000351922:P3830Q;ENSP00000350813:P3776Q;ENSP00000378042:P1672Q	ENSP00000348573:P3826Q	P	+	2	0	AKAP9	91574603	0.829000	0.29322	0.985000	0.45067	0.507000	0.33981	1.454000	0.35178	0.813000	0.34350	0.655000	0.94253	CCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	NM_005751		7:91736667
KDELC1	79070	broad.mit.edu	37	13	103443745	103443745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:103443745C>A	ENST00000376004.4	-	5	1044	c.708G>T	c.(706-708)ttG>ttT	p.L236F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	236						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCAGTCTCCCAAATTAACAA	0.398																																						ENST00000376004.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(706-708)ttG>ttT		KDEL (Lys-Asp-Glu-Leu) containing 1							154.0	171.0	165.0					13																	103443745		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443745C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.708G>T	13.37:g.103443745C>A	ENSP00000365172:p.Leu236Phe	True	False		Somatic	0				KDELC1_ENST00000460338.1_5'UTR	p.L236F	NM_024089.2	NP_076994.2	WXS	Illumina HiSeq	Phase_I	Q6UW63	KDEL1_HUMAN			5	1044	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		236					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.708G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667106	0.67814	.	.	ENSG00000134901	ENST00000376004	T	0.25085	1.82	5.91	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.72032	D	0.01	.	7.9817	0.30188	0.1148:0.6657:0.0:0.2194	.	236	Q6UW63	KDEL1_HUMAN	F	236	ENSP00000365172:L236F	ENSP00000365172:L236F	L	-	3	2	KDELC1	102241746	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	0.660000	0.25009	0.341000	0.23771	-0.345000	0.07892	TTG		0.398	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	0			13:103443745
RPIA	22934	broad.mit.edu	37	2	89035229	89035229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:89035229C>A	ENST00000283646.4	+	6	626	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	191					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTATGCTAGTCGCTTCATCGT	0.493																																						ENST00000283646.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(571-573)Cgc>Agc		ribose 5-phosphate isomerase A							194.0	189.0	191.0					2																	89035229		1978	4159	6137	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035229C>A	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.571C>A	2.37:g.89035229C>A	ENSP00000283646:p.Arg191Ser	False	False		Somatic	0					p.R191S	NM_144563.2	NP_653164.2	WXS	Illumina HiSeq	Phase_I	P49247	RPIA_HUMAN			6	626	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	191					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.571C>A	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793754	0.31685	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77620	-1.11	5.79	3.98	0.46160	.	0.576251	0.20930	N	0.083101	T	0.67702	0.2921	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.58781	-0.7576	10	0.49607	T	0.09	-1.4737	5.0953	0.14729	0.1406:0.5898:0.0:0.2696	.	191	P49247	RPIA_HUMAN	S	191;57	ENSP00000283646:R191S	ENSP00000283646:R191S	R	+	1	0	RPIA	88816344	0.021000	0.18746	0.972000	0.41901	0.690000	0.40134	0.204000	0.17335	1.449000	0.47699	0.655000	0.94253	CGC		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2	0			2:89035229
SF3B1	23451	broad.mit.edu	37	2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	740					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.G740E(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTACCTTTCCTCTGTGTTG	0.343			Mis		myelodysplastic syndrome																																	ENST00000335508.6		NA		Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		1	Substitution - Missense(1)	p.G740E(1)	haematopoietic_and_lymphoid_tissue(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2218-2220)gGa>gAa		splicing factor 3b, subunit 1, 155kDa							87.0	83.0	85.0					2																	198266713		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266713C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2219G>A	2.37:g.198266713C>T	ENSP00000335321:p.Gly740Glu	True	False		Somatic	0					p.G740E	NM_012433.2	NP_036565.2	WXS	Illumina HiSeq	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2310	-			NA					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2219G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036521	0.93630	.	.	ENSG00000115524	ENST00000335508	T	0.62364	0.03	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.107844	0.64402	D	0.000005	T	0.76449	0.3989	M	0.83692	2.655	0.80722	D	1	D	0.55800	0.973	P	0.51974	0.686	T	0.80183	-0.1488	10	0.66056	D	0.02	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	740	O75533	SF3B1_HUMAN	E	740	ENSP00000335321:G740E	ENSP00000335321:G740E	G	-	2	0	SF3B1	197974958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.359000	0.79477	2.619000	0.88677	0.563000	0.77884	GGA		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2	0			2:198266713
ZNF99	7652	broad.mit.edu	37	19	22940990	22940990	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:22940990A>C	ENST00000596209.1	-	4	1811	c.1721T>G	c.(1720-1722)tTt>tGt	p.F574C	ZNF99_ENST00000397104.3_Missense_Mutation_p.F483C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGATTGCTTAAAAGCTTTGCC	0.368																																						ENST00000397104.3		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1447-1449)tTt>tGt		zinc finger protein 99							50.0	54.0	52.0					19																	22940990		2094	4233	6327	SO:0001583	missense	7652							g.chr19:22940990A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1721T>G	19.37:g.22940990A>C	ENSP00000472969:p.Phe574Cys	True	False		Somatic	0				ZNF99_ENST00000596209.1_Missense_Mutation_p.F574C	p.F483C			WXS	Illumina HiSeq	Phase_I					5	1447	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	NA					M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1448T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	10.29	1.308831	0.23821	.	.	ENSG00000213973	ENST00000397104	T	0.45668	0.89	1.44	0.101	0.14517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63570	0.2522	M	0.88377	2.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51348	-0.8717	9	0.66056	D	0.02	.	5.428	0.16438	0.7506:0.0:0.0:0.2493	.	483	A8MXY4	ZNF99_HUMAN	C	483	ENSP00000380293:F483C	ENSP00000380293:F483C	F	-	2	0	ZNF99	22732830	0.978000	0.34361	0.001000	0.08648	0.011000	0.07611	4.718000	0.61930	-0.219000	0.10003	0.163000	0.16589	TTT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	0	XM_065124		19:22940990
COL23A1	91522	broad.mit.edu	37	5	177676127	177676127	+	Silent	SNP	G	G	T	rs373322265		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:177676127G>T	ENST00000390654.3	-	19	1497	c.1140C>A	c.(1138-1140)tcC>tcA	p.S380S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	380	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGGGAGGCCGGACAAGCCCA	0.637																																						ENST00000390654.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1138-1140)tcC>tcA		collagen, type XXIII, alpha 1							152.0	160.0	157.0					5																	177676127		2031	4186	6217	SO:0001819	synonymous_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177676127G>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1140C>A	5.37:g.177676127G>T		False	False		Somatic	0					p.S380S	NM_173465.3	NP_775736.2	WXS	Illumina HiSeq	Phase_I	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	19	1497	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	380			Collagen-like 3.|Gly-rich.		Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	c.1140C>A	CCDS4436.1																																																																																				0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	0	NM_173465		5:177676127
NAP1L3	4675	broad.mit.edu	37	X	92926869	92926869	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:92926869T>C	ENST00000373079.3	-	1	1698	c.1435A>G	c.(1435-1437)Aaa>Gaa	p.K479E	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	479					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGATTGATTTCAGGATGACA	0.363																																						ENST00000373079.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1435-1437)Aaa>Gaa		nucleosome assembly protein 1-like 3							70.0	62.0	65.0					X																	92926869		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926869T>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1435A>G	X.37:g.92926869T>C	ENSP00000362171:p.Lys479Glu	True	False		Somatic	0				NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E	p.K479E	NM_004538.5	NP_004529.2	WXS	Illumina HiSeq	Phase_I	Q99457	NP1L3_HUMAN			1	1698	-			479					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1435A>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902300	0.33628	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25912	1.77	3.42	3.42	0.39159	.	0.053033	0.64402	D	0.000001	T	0.34774	0.0909	L	0.46947	1.48	0.09310	N	1	D	0.63046	0.992	D	0.64410	0.925	T	0.07385	-1.0775	10	0.62326	D	0.03	.	4.6798	0.12729	0.0:0.1434:0.0:0.8566	.	479	Q99457	NP1L3_HUMAN	E	479;472	ENSP00000362171:K479E	ENSP00000362171:K479E	K	-	1	0	NAP1L3	92813525	0.998000	0.40836	0.715000	0.30552	0.719000	0.41307	1.448000	0.35112	1.588000	0.49971	0.430000	0.28490	AAA		0.363	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	0	NM_004538		X:92926869
NOX4	50507	broad.mit.edu	37	11	89133524	89133524	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:89133524A>G	ENST00000263317.4	-	10	1108	c.870T>C	c.(868-870)ccT>ccC	p.P290P	NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000535633.1_Silent_p.P266P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000532825.1_Silent_p.P266P			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	290	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACAGGCACAAAGGTCCAGAAA	0.398																																						ENST00000535633.1		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(796-798)ccT>ccC		NADPH oxidase 4							48.0	46.0	47.0					11																	89133524		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133524A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.870T>C	11.37:g.89133524A>G		True	False		Somatic	0				NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000525196.1_Intron	p.P266P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina HiSeq	Phase_I	Q9NPH5	NOX4_HUMAN			10	1108	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	290			Ferric oxidoreductase.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.798T>C	CCDS8285.1																																																																																				0.398	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	0	NM_016931		11:89133524
FCGBP	8857	broad.mit.edu	37	19	40433627	40433627	+	Silent	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:40433627G>A	ENST00000221347.6	-	2	649	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	214	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTAGCTGTGACCTTTGACC	0.562																																						ENST00000221347.6		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(640-642)gtC>gtT		Fc fragment of IgG binding protein							73.0	71.0	72.0					19																	40433627		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433627G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.642C>T	19.37:g.40433627G>A		False	False		Somatic	0					p.V214V	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		214			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.642C>T	CCDS12546.1																																																																																				0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40433627
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
SCN3A	6328	broad.mit.edu	37	2	165947203	165947203	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:165947203C>A	ENST00000360093.3	-	28	5951	c.5460G>T	c.(5458-5460)ctG>ctT	p.L1820L	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000409101.3_Silent_p.L1771L|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1820					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGAGGATCCAGGGCAGCTG	0.448																																						ENST00000360093.3		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5458-5460)ctG>ctT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						92.0	99.0	96.0					2																	165947203		2203	4298	6501	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947203C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5460G>T	2.37:g.165947203C>A		False	False		Somatic	0				SCN3A_ENST00000409101.3_Silent_p.L1771L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000540861.1_Silent_p.L303L	p.L1820L	NM_001081677.1	NP_001075146.1	WXS	Illumina HiSeq	Phase_I	Q9NY46	SCN3A_HUMAN			28	5951	-			1820					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.5460G>T																																																																																					0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_006922		2:165947203
JPH1	56704	broad.mit.edu	37	8	75227735	75227735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:75227735C>T	ENST00000342232.4	-	2	540	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	167					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCGCTGCGCAGCGAGGC	0.721																																						ENST00000342232.4		NA																	0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(499-501)cGc>cAc		junctophilin 1							13.0	13.0	13.0					8																	75227735		2125	4151	6276	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227735C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.500G>A	8.37:g.75227735C>T	ENSP00000344488:p.Arg167His	False	False		Somatic	0					p.R167H	NM_020647.2	NP_065698.1	WXS	Illumina HiSeq	Phase_I	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	540	-	Breast(64;0.00576)		167					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.500G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214836	0.95104	.	.	ENSG00000104369	ENST00000342232	T	0.63913	-0.07	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82824	-0.0266	10	0.49607	T	0.09	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	167	Q9HDC5	JPH1_HUMAN	H	167	ENSP00000344488:R167H	ENSP00000344488:R167H	R	-	2	0	JPH1	75390290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.489000	0.81451	2.284000	0.76573	0.655000	0.94253	CGC		0.721	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1	0			8:75227735
DNHD1	144132	broad.mit.edu	37	11	6593035	6593035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:6593035G>A	ENST00000527990.2	+	41	14081	c.14081G>A	c.(14080-14082)aGt>aAt	p.S4694N	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4694N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4694					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGGGCACCAGTGACCTGCCA	0.637																																						ENST00000254579.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(14080-14082)aGt>aAt		dynein heavy chain domain 1							46.0	56.0	53.0					11																	6593035		2136	4246	6382	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593035G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14081G>A	11.37:g.6593035G>A	ENSP00000436180:p.Ser4694Asn	False	False		Somatic	0				DNHD1_ENST00000527990.2_Missense_Mutation_p.S4694N	p.S4694N	NM_144666.2	NP_653267.2	WXS	Illumina HiSeq	Phase_I	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14645	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4694					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.14081G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615437	0.03663	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.26067	1.76;1.76	4.75	-5.17	0.02849	Dynein heavy chain (1);	1.578020	0.03032	N	0.152237	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28490	-1.0042	10	0.12103	T	0.63	1.5404	9.9464	0.41611	0.1879:0.1309:0.6813:0.0	.	3782;747;4694	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	N	4694;4694;962	ENSP00000254579:S4694N;ENSP00000436180:S4694N	ENSP00000254579:S4694N	S	+	2	0	DNHD1	6549611	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.007000	0.03667	-0.921000	0.03794	-0.165000	0.13383	AGT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	0	NM_144666		11:6593035
ZNF761	388561	broad.mit.edu	37	19	53959318	53959318	+	RNA	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53959318G>A	ENST00000454407.1	+	0	2010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAAGCTTACA	0.428																																						ENST00000454407.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							103.0	100.0	101.0					19																	53959318		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959318G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959318G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2010	+			NA					Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	NM_001008401		19:53959318
DHX38	9785	broad.mit.edu	37	16	72130794	72130794	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:72130794C>A	ENST00000268482.3	+	3	906	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	DHX38_ENST00000536867.1_Intron|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	133					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAACGCAGTCGGCAGAGAGA	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3		NA																	0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(397-399)Cgg>Agg		DEAH (Asp-Glu-Ala-His) box polypeptide 38							172.0	173.0	172.0					16																	72130794		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130794C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.397C>A	16.37:g.72130794C>A		False	False		Somatic	0				DHX38_ENST00000536867.1_Intron	p.R133R	NM_014003.3	NP_054722.2	WXS	Illumina HiSeq	Phase_I	Q92620	PRP16_HUMAN			3	906	+		Ovarian(137;0.125)	133					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.397C>A	CCDS10907.1																																																																																				0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	0	NM_014003		16:72130794
AKAP6	9472	broad.mit.edu	37	14	33291486	33291486	+	Silent	SNP	C	C	T	rs371708448		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:33291486C>T	ENST00000280979.4	+	13	4637	c.4467C>T	c.(4465-4467)agC>agT	p.S1489S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1489					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTCACAAAGCGAAAAAGCGC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4		NA																	0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4465-4467)agC>agT		A kinase (PRKA) anchor protein 6		C		1,4405	2.1+/-5.4	0,1,2202	73.0	70.0	71.0		4467	4.6	1.0	14		71	0,8600		0,0,4300	no	coding-synonymous	AKAP6	NM_004274.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1489/2320	33291486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291486C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4467C>T	14.37:g.33291486C>T		False	False		Somatic	0				AKAP6_ENST00000557272.1_Intron	p.S1489S	NM_004274.4	NP_004265.3	WXS	Illumina HiSeq	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4637	+	Breast(36;0.0388)|Prostate(35;0.15)		1489					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4467C>T	CCDS9644.1																																																																																				0.348	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	NM_004274		14:33291486
KCTD9	54793	broad.mit.edu	37	8	25296876	25296876	+	Silent	SNP	G	G	T	rs368385732		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:25296876G>T	ENST00000221200.4	-	6	638	c.418C>A	c.(418-420)Cga>Aga	p.R140R	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	140	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TCAGGACTTCGGTCAATTAAG	0.368																																						ENST00000221200.4		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(418-420)Cga>Aga		potassium channel tetramerization domain containing 9							40.0	40.0	40.0					8																	25296876		2203	4299	6502	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25296876G>T	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.418C>A	8.37:g.25296876G>T		False	False		Somatic	0				KCTD9_ENST00000518067.1_5'UTR	p.R140R	NM_017634.3	NP_060104.2	WXS	Illumina HiSeq	Phase_I	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	6	638	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	140			BTB.		Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.418C>A	CCDS6048.1																																																																																				0.368	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	0	NM_017634		8:25296876
SPAG17	200162	broad.mit.edu	37	1	118609502	118609502	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:118609502C>T	ENST00000336338.5	-	18	2471	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	802						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTATATTGCTTATGGGCTT	0.358																																						ENST00000336338.5		NA																	0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2404-2406)aaG>aaA		sperm associated antigen 17							101.0	97.0	98.0					1																	118609502		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118609502C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2406G>A	1.37:g.118609502C>T		False	False		Somatic	0					p.K802K	NM_206996.2	NP_996879.1	WXS	Illumina HiSeq	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	18	2471	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	802					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.2406G>A	CCDS899.1																																																																																				0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	0	NM_206996		1:118609502
TM2D3	80213	broad.mit.edu	37	15	102191940	102191940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:102191940G>T	ENST00000333202.3	-	2	133	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	43						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTGGGCCCGGATCCTTTAT	0.423																																						ENST00000333202.3		NA																	0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(127-129)cCg>cAg		TM2 domain containing 3							161.0	167.0	165.0					15																	102191940		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102191940G>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.128C>A	15.37:g.102191940G>T	ENSP00000330433:p.Pro43Gln	True	False		Somatic	0				TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q	p.P43Q	NM_078474.2	NP_510883.2	WXS	Illumina HiSeq	Phase_I	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	133	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		43					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.128C>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762555	0.31228	.	.	ENSG00000184277	ENST00000333202	T	0.73152	-0.72	4.28	3.35	0.38373	.	0.429980	0.24318	N	0.039579	T	0.70159	0.3192	L	0.44542	1.39	0.80722	D	1	D;B	0.56746	0.977;0.017	P;B	0.57548	0.823;0.003	T	0.64433	-0.6409	10	0.12766	T	0.61	-20.9337	10.7681	0.46305	0.0:0.1937:0.8063:0.0	.	43;43	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	Q	43	ENSP00000330433:P43Q	ENSP00000330433:P43Q	P	-	2	0	TM2D3	100009463	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	2.657000	0.46724	1.077000	0.40990	0.557000	0.71058	CCG		0.423	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	0	NM_078474		15:102191940
LGALS1	3956	broad.mit.edu	37	22	38075643	38075643	+	Missense_Mutation	SNP	G	G	A	rs375290542		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:38075643G>A	ENST00000215909.5	+	4	390	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	99	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAACCTGACCGTCAAGCTGCC	0.567																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5		NA																	0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(295-297)Gtc>Atc		lectin, galactoside-binding, soluble, 1		G	ILE/VAL	0,4406		0,0,2203	115.0	82.0	93.0		295	-0.1	1.0	22		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS1	NM_002305.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	99/136	38075643	1,13005	2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075643G>A		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.295G>A	22.37:g.38075643G>A	ENSP00000215909:p.Val99Ile	False	False		Somatic	0				LGALS1_ENST00000489315.1_3'UTR	p.V99I	NM_002305.3	NP_002296.1	WXS	Illumina HiSeq	Phase_I	P09382	LEG1_HUMAN			4	390	+	Melanoma(58;0.0574)		99			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.295G>A	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	g	0.469	-0.885255	0.02511	0.0	1.16E-4	ENSG00000100097	ENST00000215909	T	0.04360	3.64	6.08	-0.0473	0.13844	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.237165	0.42294	N	0.000737	T	0.03695	0.0105	L	0.31120	0.905	0.31764	N	0.632933	B	0.11235	0.004	B	0.19666	0.026	T	0.35051	-0.9804	10	0.19590	T	0.45	-0.9193	10.1288	0.42665	0.4005:0.0:0.5995:0.0	.	99	P09382	LEG1_HUMAN	I	99	ENSP00000215909:V99I	ENSP00000215909:V99I	V	+	1	0	LGALS1	36405589	0.451000	0.25705	0.997000	0.53966	0.127000	0.20565	0.715000	0.25822	-0.043000	0.13513	-1.057000	0.02308	GTC		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	0	NM_002305		22:38075643
CPNE4	131034	broad.mit.edu	37	3	131283152	131283152	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:131283152G>C	ENST00000512055.1	-	15	3095	c.969C>G	c.(967-969)aaC>aaG	p.N323K	CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K			Q96A23	CPNE4_HUMAN	copine IV	323	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGAACAGCTGTTCCTGGGGT	0.433																																						ENST00000512055.1		NA																	0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(967-969)aaC>aaG		copine IV							114.0	109.0	111.0					3																	131283152		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131283152G>C	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.969C>G	3.37:g.131283152G>C	ENSP00000421705:p.Asn323Lys	False	False		Somatic	0				CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K	p.N323K			WXS	Illumina HiSeq	Phase_I	Q96A23	CPNE4_HUMAN			15	3095	-			323			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.969C>G	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243726	0.58995	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54071	0.6;0.6;0.59;0.6;0.59	5.52	4.65	0.58169	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.58510	1.815	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.74023	0.982;0.313	T	0.65994	-0.6033	10	0.35671	T	0.21	-36.7038	14.6356	0.68686	0.07:0.0:0.93:0.0	.	341;323	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	323;323;341;323;341	ENSP00000421705:N323K;ENSP00000411904:N323K;ENSP00000424853:N341K;ENSP00000423811:N323K;ENSP00000421646:N341K	ENSP00000411904:N323K	N	-	3	2	CPNE4	132765842	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.441000	0.66569	1.350000	0.45770	-0.221000	0.12465	AAC		0.433	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	0	NM_130808		3:131283152
PCDH17	27253	broad.mit.edu	37	13	58298909	58298909	+	Silent	SNP	C	C	T	rs138830034	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:58298909C>T	ENST00000377918.3	+	4	2987	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	987					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGAGACTTACGAAACTGTGA	0.413																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2959-2961)taC>taT		protocadherin 17		C		0,4406		0,0,2203	107.0	103.0	104.0		2961	-0.3	1.0	13	dbSNP_134	104	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	PCDH17	NM_001040429.2		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		987/1160	58298909	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298909C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2961C>T	13.37:g.58298909C>T		False	False		Somatic	0					p.Y987Y	NM_001040429.2	NP_001035519.1	WXS	Illumina HiSeq	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	2987	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	987					A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2961C>T	CCDS31986.1																																																																																				0.413	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	NM_001040429		13:58298909
OR2W5	441932	broad.mit.edu	37	1	247655339	247655339	+	RNA	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:247655339A>T	ENST00000522351.1	+	0	970							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATGAAGAAACTTCTGGGGT	0.507																																						ENST00000522351.1		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															67.0	68.0	68.0					1																	247655339		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655339A>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655339A>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	970	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	NA					B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.507	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	NM_001004698		1:247655339
RERG	85004	broad.mit.edu	37	12	15262086	15262086	+	Silent	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:15262086G>T	ENST00000256953.2	-	5	894	c.558C>A	c.(556-558)gtC>gtA	p.V186V	RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000538313.1_Silent_p.V186V|RERG_ENST00000536465.1_Silent_p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	186					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCTTGCTTGACATGCGTGG	0.517																																						ENST00000256953.2		NA																	0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(556-558)gtC>gtA		RAS-like, estrogen-regulated, growth inhibitor							125.0	118.0	120.0					12																	15262086		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262086G>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.558C>A	12.37:g.15262086G>T		True	False		Somatic	0				RERG_ENST00000536465.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000538313.1_Silent_p.V186V	p.V186V	NM_032918.2	NP_116307.1	WXS	Illumina HiSeq	Phase_I	Q96A58	RERG_HUMAN			5	894	-			186					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.558C>A	CCDS8673.1																																																																																				0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	0	NM_032918		12:15262086
GPR158	57512	broad.mit.edu	37	10	25701403	25701403	+	Splice_Site	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:25701403G>T	ENST00000376351.3	+	4	1694		c.e4+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAGCAAAGGTAAACCCAGG	0.433																																						ENST00000376351.3		NA																	0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.e4+1		G protein-coupled receptor 158							118.0	103.0	108.0					10																	25701403		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701403G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1335+1G>T	10.37:g.25701403G>T		False	False		Somatic	0						NM_020752.2	NP_065803.2	WXS	Illumina HiSeq	Phase_I	Q5T848	GP158_HUMAN			4	1694	+			NA					Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37		CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999869	0.93227	.	.	ENSG00000151025	ENST00000376351	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25741409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	.		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	0	XM_166110	Intron	10:25701403
C11orf30	56946	broad.mit.edu	37	11	76257216	76257216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:76257216G>A	ENST00000529032.1	+	19	3649	c.3649G>A	c.(3649-3651)Gtt>Att	p.V1217I	C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1217					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATCCACTGTTGGCTCTTC	0.512																																						ENST00000529032.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3649-3651)Gtt>Att		chromosome 11 open reading frame 30							87.0	89.0	88.0					11																	76257216		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257216G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3649G>A	11.37:g.76257216G>A	ENSP00000432327:p.Val1217Ile	False	False		Somatic	0				C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000343878.3_Intron	p.V1217I			WXS	Illumina HiSeq	Phase_I	Q7Z589	EMSY_HUMAN			19	3649	+			1217					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3649G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162780	0.21538	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	3.0	0.34707	.	0.499003	0.20569	N	0.089772	T	0.36166	0.0957	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.22346	0.068;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20767	0.031;0.0;0.0;0.0;0.0;0.0	T	0.15150	-1.0447	9	0.27082	T	0.32	-1.8144	9.3812	0.38316	0.1312:0.119:0.7498:0.0	.	1126;1218;1232;1218;1119;1217	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	I	1119;1217;899;1232;1126;1218;1218;1217	.	ENSP00000334130:V1217I	V	+	1	0	C11orf30	75934864	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.038000	0.41184	1.580000	0.49851	0.650000	0.86243	GTT		0.512	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	0	NM_020193		11:76257216
PTCHD2	57540	broad.mit.edu	37	1	11561859	11561859	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:11561859C>T	ENST00000294484.6	+	2	948	c.810C>T	c.(808-810)caC>caT	p.H270H	PTCHD2_ENST00000389575.3_Silent_p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	270					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAGACGCACGCGCACTGGC	0.677																																						ENST00000294484.6		NA																	0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(808-810)caC>caT		patched domain containing 2							14.0	16.0	15.0					1																	11561859		2024	4164	6188	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561859C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.810C>T	1.37:g.11561859C>T		True	False		Somatic	0				PTCHD2_ENST00000389575.3_Silent_p.H270H	p.H270H	NM_020780.1	NP_065831.1	WXS	Illumina HiSeq	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	948	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	270					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.810C>T	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	XM_052561		1:11561859
PGBD2	267002	broad.mit.edu	37	1	249211293	249211293	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:249211293C>A	ENST00000329291.5	+	3	657	c.510C>A	c.(508-510)gtC>gtA	p.V170V	PGBD2_ENST00000539153.1_Silent_p.V167V|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	170										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAAAAATGTCAATTTGAGTC	0.383																																						ENST00000539153.1		NA																	0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(499-501)gtC>gtA		piggyBac transposable element derived 2							131.0	135.0	134.0					1																	249211293		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:249211293C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.510C>A	1.37:g.249211293C>A		False	False		Somatic	0				PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.V170V|PGBD2_ENST00000462488.1_Intron	p.V167V			WXS	Illumina HiSeq	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	756	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	170					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.501C>A	CCDS31128.1																																																																																				0.383	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	0			1:249211293
LINC01317	104355287	broad.mit.edu	37	2	33952825	33952825	+	lincRNA	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:33952825G>C	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GCTCCACGAGGAGGATGACCA	0.617																																						ENST00000366209.2		NA																	0					NA																																														0							g.chr2:33952825G>C																													2.37:g.33952825G>C		False	False		Somatic	0				MYADML_ENST00000474610.1_RNA				WXS	Illumina HiSeq	Phase_I					0	68	+			NA						RNA	SNP	ENST00000366209.2	37																																																																																						0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1	0			2:33952825
DNAH6	1768	broad.mit.edu	37	2	84784998	84784998	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:84784998C>T	ENST00000237449.6	+	10	1750	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	DNAH6_ENST00000389394.3_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	581	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAACTGGGCCAAGTTTAGCA	0.343																																						ENST00000389394.3		NA																	0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1741-1743)cCa>cTa		dynein, axonemal, heavy chain 6							91.0	90.0	90.0					2																	84784998		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784998C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1742C>T	2.37:g.84784998C>T	ENSP00000237449:p.Pro581Leu	False	False		Somatic	0				DNAH6_ENST00000237449.6_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L	p.P581L	NM_001370.1	NP_001361.1	WXS	Illumina HiSeq	Phase_I	Q9C0G6	DYH6_HUMAN			11	1879	+			581			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1742C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109272	0.56398	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.86;1.76	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000083	T	0.51483	0.1677	M	0.70275	2.135	0.54753	D	0.999982	B;D	0.89917	0.344;1.0	B;D	0.79784	0.078;0.993	T	0.54227	-0.8325	10	0.62326	D	0.03	.	17.2596	0.87066	0.0:1.0:0.0:0.0	.	581;160	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	581	ENSP00000374045:P581L;ENSP00000381326:P581L;ENSP00000237449:P581L	ENSP00000237449:P581L	P	+	2	0	DNAH6	84638509	0.998000	0.40836	0.736000	0.30914	0.477000	0.33069	4.964000	0.63701	2.363000	0.80096	0.561000	0.74099	CCA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	0	NM_001370		2:84784998
MED1	5469	broad.mit.edu	37	17	37565824	37565824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:37565824C>A	ENST00000300651.6	-	17	2873	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTTTCATCAAAATATTCT	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6		NA																	0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2650-2652)Gat>Tat		mediator complex subunit 1							108.0	110.0	109.0					17																	37565824		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565824C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2650G>T	17.37:g.37565824C>A	ENSP00000300651:p.Asp884Tyr	True	False	HNSCC(31;0.082)	Somatic	0				MED1_ENST00000394287.3_Intron	p.D884Y	NM_004774.3	NP_004765.2	WXS	Illumina HiSeq	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2873	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	884			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2650G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316261	0.60524	.	.	ENSG00000125686	ENST00000300651	T	0.39997	1.05	6.17	6.17	0.99709	.	.	.	.	.	T	0.53626	0.1808	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.54423	-0.8296	9	0.72032	D	0.01	-11.7191	20.8794	0.99867	0.0:1.0:0.0:0.0	.	884	Q15648	MED1_HUMAN	Y	884	ENSP00000300651:D884Y	ENSP00000300651:D884Y	D	-	1	0	MED1	34819350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.584000	0.82572	2.941000	0.99782	0.655000	0.94253	GAT		0.398	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	0	NM_004774		17:37565824
DYNC1I1	1780	broad.mit.edu	37	7	95665004	95665004	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:95665004T>A	ENST00000324972.6	+	13	1548	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGGGAGACGTCAATAACTTC	0.463																																						ENST00000324972.6		NA																	0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1354-1356)gTc>gAc		dynein, cytoplasmic 1, intermediate chain 1							323.0	260.0	282.0					7																	95665004		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665004T>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1355T>A	7.37:g.95665004T>A	ENSP00000320130:p.Val452Asp	False	False		Somatic	0				DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D	p.V452D	NM_004411.4	NP_004402.1	WXS	Illumina HiSeq	Phase_I	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1548	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		452					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1355T>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168707	0.57584	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996	D;D;D;D;D	0.78314	0.979;0.991;0.991;0.969;0.923	T	0.82631	-0.0362	10	0.11182	T	0.66	0.0118	15.3616	0.74478	0.0:0.0:0.0:1.0	.	435;432;435;452;415	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	D	435;452;415;432;415;435	ENSP00000392337:V435D;ENSP00000320130:V452D;ENSP00000438377:V415D;ENSP00000398118:V432D;ENSP00000352348:V415D;ENSP00000412444:V435D	ENSP00000320130:V452D	V	+	2	0	DYNC1I1	95502940	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	7.868000	0.87116	2.283000	0.76528	0.477000	0.44152	GTC		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	0	NM_004411		7:95665004
LAMB4	22798	broad.mit.edu	37	7	107743496	107743496	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:107743496C>T	ENST00000388781.3	-	10	1256	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	LAMB4_ENST00000388780.3_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000205386.4_Silent_p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	391	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGAATGCACGCGTAGGGAT	0.577																																						ENST00000388781.3		NA																	0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1171-1173)gcG>gcA		laminin, beta 4							64.0	57.0	59.0					7																	107743496		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743496C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1173G>A	7.37:g.107743496C>T		False	False		Somatic	0				LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A	p.A391A	NM_007356.2	NP_031382.2	WXS	Illumina HiSeq	Phase_I	A4D0S4	LAMB4_HUMAN			10	1256	-			391			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1173G>A	CCDS34732.1																																																																																				0.577	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	0	XM_209857		7:107743496
GREM2	64388	broad.mit.edu	37	1	240656454	240656454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:240656454G>A	ENST00000318160.4	-	2	588	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	108	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTCACGTGCCGCGGGATGTAG	0.672																																						ENST00000318160.4		NA																	0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(322-324)Cgg>Tgg		gremlin 2, DAN family BMP antagonist							57.0	59.0	58.0					1																	240656454		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656454G>A	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.322C>T	1.37:g.240656454G>A	ENSP00000318650:p.Arg108Trp	False	False		Somatic	0					p.R108W	NM_022469.3	NP_071914.3	WXS	Illumina HiSeq	Phase_I	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	588	-		all_cancers(173;0.0196)	108			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.322C>T	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861866	0.91433	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.82323	2.585	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.57312	-0.7833	10	0.54805	T	0.06	-17.7704	14.0116	0.64500	0.0:0.0:0.8481:0.1519	.	108	Q9H772	GREM2_HUMAN	W	108	ENSP00000318650:R108W	ENSP00000318650:R108W	R	-	1	2	GREM2	238723077	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	2.290000	0.77057	0.557000	0.71058	CGG		0.672	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	0	NM_022469		1:240656454
PREX2	80243	broad.mit.edu	37	8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	463	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R463C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348																																						ENST00000288368.4		NA																	2	Substitution - Missense(2)	p.R463C(2)	skin(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1387-1389)Cgc>Tgc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							76.0	71.0	73.0					8																	68981315		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68981315C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1387C>T	8.37:g.68981315C>T	ENSP00000288368:p.Arg463Cys	True	False		Somatic	0				PREX2_ENST00000529398.1_3'UTR	p.R463C	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina HiSeq	Phase_I	Q70Z35	PREX2_HUMAN			12	1664	+			463			DEP 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1387C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751767	0.89753	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.14391	2.51	5.72	4.84	0.62591	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.08576	-1.0715	10	0.87932	D	0	.	15.0201	0.71624	0.0:0.9317:0.0:0.0683	.	463;463;463	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	463	ENSP00000288368:R463C	ENSP00000288368:R463C	R	+	1	0	PREX2	69143869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.566000	0.82347	1.559000	0.49555	0.650000	0.86243	CGC		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	0	NM_025170		8:68981315
SF3B1	23451	broad.mit.edu	37	2	198265629	198265629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198265629T>C	ENST00000335508.6	-	18	2619	c.2528A>G	c.(2527-2529)aAa>aGa	p.K843R	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	843					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCACCTACTTTGTTTGCCAA	0.348			Mis		myelodysplastic syndrome																																	ENST00000335508.6		NA		Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2527-2529)aAa>aGa		splicing factor 3b, subunit 1, 155kDa							84.0	83.0	84.0					2																	198265629		2203	4299	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265629T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2528A>G	2.37:g.198265629T>C	ENSP00000335321:p.Lys843Arg	True	False		Somatic	0					p.K843R	NM_012433.2	NP_036565.2	WXS	Illumina HiSeq	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2619	-			NA					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2528A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581538	0.65992	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.76433	2.335	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.68447	-0.5406	10	0.52906	T	0.07	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	843	O75533	SF3B1_HUMAN	R	843	ENSP00000335321:K843R	ENSP00000335321:K843R	K	-	2	0	SF3B1	197973874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	AAA		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2	0			2:198265629
SARDH	1757	broad.mit.edu	37	9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	rs201111406		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14287	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)aCg>aTg		sarcosine dehydrogenase							57.0	65.0	62.0					9																	136573530		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573530G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1349C>T	9.37:g.136573530G>A	ENSP00000360938:p.Thr450Met	False	False		Somatic	0				SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M	p.T450M	NM_007101.3	NP_009032.2	WXS	Illumina HiSeq	Phase_I	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1606	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1349C>T	CCDS6978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.65	2.300782	0.40694	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85088	-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.281286	0.39341	N	0.001396	T	0.81498	0.4835	L	0.45228	1.405	0.80722	D	1	P	0.40083	0.702	B	0.37091	0.241	T	0.82196	-0.0577	10	0.42905	T	0.14	-24.2495	18.6122	0.91290	0.0:0.0:1.0:0.0	.	450	Q9UL12	SARDH_HUMAN	M	450;450;282;450;450	ENSP00000360938:T450M;ENSP00000403084:T450M;ENSP00000415537:T282M	ENSP00000360938:T450M	T	-	2	0	SARDH	135563351	1.000000	0.71417	0.902000	0.35471	0.054000	0.15201	7.704000	0.84595	2.378000	0.81104	0.557000	0.71058	ACG		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	0			9:136573530
ZNF254	9534	broad.mit.edu	37	19	24310056	24310056	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310056T>C	ENST00000357002.4	+	4	1369	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	ZNF254_ENST00000342944.6_Silent_p.S333S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	418					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCTTCAAATCTTA	0.348																																						ENST00000357002.4		NA																	0					NA						c.(1252-1254)tcT>tcC		zinc finger protein 254							40.0	43.0	42.0					19																	24310056		2202	4300	6502	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310056T>C	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1254T>C	19.37:g.24310056T>C		False	False		Somatic	0				ZNF254_ENST00000342944.6_Silent_p.S333S	p.S418S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina HiSeq	Phase_I	O75437	ZN254_HUMAN			4	1369	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	418					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1254T>C	CCDS32983.1																																																																																				0.348	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	0	NM_004876		19:24310056
MYOT	9499	broad.mit.edu	37	5	137219194	137219194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:137219194T>A	ENST00000239926.4	+	7	1312	c.938T>A	c.(937-939)gTc>gAc	p.V313D	MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	313	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTGAAGTAGTCAGAGCTTCA	0.443																																						ENST00000239926.4		NA																	0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(937-939)gTc>gAc		myotilin							109.0	102.0	104.0					5																	137219194		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219194T>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.938T>A	5.37:g.137219194T>A	ENSP00000239926:p.Val313Asp	False	False		Somatic	0				MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D	p.V313D	NM_006790.2	NP_006781	WXS	Illumina HiSeq	Phase_I	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1312	+			313			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.938T>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221755	0.79464	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.72505	-0.66;-0.66;-0.66	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	D	0.88276	0.6393	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91887	0.5520	10	0.87932	D	0	.	15.1564	0.72746	0.0:0.0:0.0:1.0	.	313	Q9UBF9	MYOTI_HUMAN	D	313;129;198	ENSP00000239926:V313D;ENSP00000391185:V129D;ENSP00000426281:V198D	ENSP00000239926:V313D	V	+	2	0	MYOT	137247093	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.191000	0.72063	2.021000	0.59480	0.533000	0.62120	GTC		0.443	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	0	NM_006790		5:137219194
YEATS4	8089	broad.mit.edu	37	12	69759611	69759611	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:69759611G>T	ENST00000247843.2	+	4	550	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	94	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AACAGGATGGGGTGAATTCGA	0.274																																						ENST00000247843.2		NA																	0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(280-282)Ggt>Tgt		YEATS domain containing 4							75.0	79.0	78.0					12																	69759611		2203	4292	6495	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69759611G>T	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.280G>T	12.37:g.69759611G>T	ENSP00000247843:p.Gly94Cys	True	False		Somatic	0				YEATS4_ENST00000548020.1_Intron	p.G94C	NM_006530.2	NP_006521.1	WXS	Illumina HiSeq	Phase_I	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		4	550	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		94			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.280G>T	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955700	0.92726	.	.	ENSG00000127337	ENST00000247843;ENST00000549685;ENST00000552955	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93595	0.6925	8	.	.	.	-13.6897	20.0429	0.97598	0.0:0.0:1.0:0.0	.	94	O95619	YETS4_HUMAN	C	94;36;135	.	.	G	+	1	0	YEATS4	68045878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.146000	0.94640	2.812000	0.96745	0.555000	0.69702	GGT		0.274	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	0	NM_006530		12:69759611
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378																																						ENST00000367265.3		NA																	0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1381-1383)ttG>ttT		lysine (K)-specific demethylase 5B							95.0	101.0	99.0					1																	202724554		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724554C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe	True	False		Somatic	0				KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	p.L461F	NM_006618.3	NP_006609.3	WXS	Illumina HiSeq	Phase_I	Q9UGL1	KDM5B_HUMAN			11	2547	-			461			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1383G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	NM_006618		1:202724554
HSPA1L	3305	broad.mit.edu	37	6	31779009	31779009	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31779009G>T	ENST00000375654.4	-	2	930	c.741C>A	c.(739-741)ttC>ttA	p.F247L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	247					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTTCCTCTTGAACTCCTCCA	0.577																																						ENST00000375654.4		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(739-741)ttC>ttA		heat shock 70kDa protein 1-like							67.0	69.0	68.0					6																	31779009		2203	4297	6500	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779009G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.741C>A	6.37:g.31779009G>T	ENSP00000364805:p.Phe247Leu	False	False		Somatic	0				HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	p.F247L	NM_005527.3	NP_005518.3	WXS	Illumina HiSeq	Phase_I	P34931	HS71L_HUMAN			2	930	-			247					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.741C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758844	0.49468	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01295	5.04;5.04	5.4	4.53	0.55603	.	0.000000	0.36409	N	0.002612	T	0.08268	0.0206	H	0.96460	3.825	0.80722	D	1	D	0.61080	0.989	D	0.87578	0.998	T	0.00827	-1.1550	10	0.87932	D	0	-8.4819	11.7911	0.52070	0.0842:0.0:0.9158:0.0	.	247	P34931	HS71L_HUMAN	L	247;247;192;137	ENSP00000364805:F247L;ENSP00000387691:F247L	ENSP00000364804:F192L	F	-	3	2	HSPA1L	31886988	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	7.770000	0.85390	1.513000	0.48852	0.585000	0.79938	TTC		0.577	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2	0			6:31779009
RYR2	6262	broad.mit.edu	37	1	237995882	237995882	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:237995882A>T	ENST00000366574.2	+	105	15156	c.14839A>T	c.(14839-14841)Agg>Tgg	p.R4947W	RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCAAGAAAGGTGTTGGGA	0.388																																						ENST00000366574.2		NA																	0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14839-14841)Agg>Tgg		ryanodine receptor 2 (cardiac)							93.0	89.0	90.0					1																	237995882		1860	4127	5987	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237995882A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14839A>T	1.37:g.237995882A>T	ENSP00000355533:p.Arg4947Trp	True	False		Somatic	0				RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W	p.R4947W	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	15156	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4947					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14839A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333129	0.60853	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.26;-4.29	5.16	4.0	0.46444	.	0.000000	0.56097	D	0.000025	D	0.98460	0.9487	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98802	1.0740	10	0.87932	D	0	-17.2433	11.8212	0.52238	0.7051:0.2949:0.0:0.0	.	4947	Q92736	RYR2_HUMAN	W	4947;4953;4931	ENSP00000355533:R4947W;ENSP00000353174:R4953W;ENSP00000443798:R4931W	ENSP00000353174:R4953W	R	+	1	2	RYR2	236062505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.605000	0.46283	0.932000	0.37266	0.533000	0.62120	AGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237995882
RILPL2	196383	broad.mit.edu	37	12	123907604	123907604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:123907604T>A	ENST00000280571.8	-	3	888	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	198					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTTTTTATGATTGTCTTCTCC	0.507																																						ENST00000280571.8		NA																	0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(592-594)Atc>Ttc		Rab interacting lysosomal protein-like 2							192.0	172.0	179.0					12																	123907604		2203	4300	6503	SO:0001583	missense	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123907604T>A	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.592A>T	12.37:g.123907604T>A	ENSP00000280571:p.Ile198Phe	False	False		Somatic	0					p.I198F	NM_145058.1	NP_659495.1	WXS	Illumina HiSeq	Phase_I	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	3	888	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		198						Missense_Mutation	SNP	ENST00000280571.8	37	c.592A>T	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342477	0.41498	.	.	ENSG00000150977	ENST00000280571	T	0.45668	0.89	5.0	3.85	0.44370	.	0.229969	0.44688	D	0.000439	T	0.32224	0.0822	L	0.29908	0.895	0.38433	D	0.946505	P	0.49961	0.93	P	0.44860	0.462	T	0.14392	-1.0474	10	0.48119	T	0.1	.	8.3232	0.32140	0.0:0.0913:0.0:0.9087	.	198	Q969X0	RIPL2_HUMAN	F	198	ENSP00000280571:I198F	ENSP00000280571:I198F	I	-	1	0	RILPL2	122473557	0.981000	0.34729	0.610000	0.28997	0.063000	0.16089	1.962000	0.40442	0.858000	0.35431	0.533000	0.62120	ATC		0.507	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_145058		12:123907604
ZNF90	7643	broad.mit.edu	37	19	20215121	20215121	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:20215121A>C	ENST00000418063.2	+	2	189	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTGCACAGCAGAATTTATAT	0.413																																						ENST00000418063.2		NA																	0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(76-78)cAg>cCg		zinc finger protein 90																																				SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215121A>C	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.77A>C	19.37:g.20215121A>C	ENSP00000410466:p.Gln26Pro	False	False		Somatic	0				ZNF90_ENST00000474284.1_Intron	p.Q26P	NM_007138.1	NP_009069.1	WXS	Illumina HiSeq	Phase_I	Q03938	ZNF90_HUMAN			2	189	+			26			KRAB.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.77A>C	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806870	0.16467	.	.	ENSG00000213988	ENST00000418063	T	0.01854	4.6	1.11	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.05044	0.0135	M	0.87900	2.915	0.09310	N	1	B	0.24576	0.106	B	0.28385	0.089	T	0.26087	-1.0113	9	0.87932	D	0	.	5.4433	0.16521	0.6311:0.0:0.3689:0.0	.	26	Q03938	ZNF90_HUMAN	P	26	ENSP00000410466:Q26P	ENSP00000410466:Q26P	Q	+	2	0	ZNF90	20076121	0.004000	0.15560	0.262000	0.24481	0.258000	0.26162	-0.724000	0.04947	-1.315000	0.02297	-1.160000	0.01791	CAG		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	0	NM_007138		19:20215121
MAP3K5	4217	broad.mit.edu	37	6	137113237	137113237	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137113237C>G	ENST00000359015.4	-	1	419	c.59G>C	c.(58-60)gGc>gCc	p.G20A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTGCAGAAGCCCGAGGGGGC	0.751																																						ENST00000359015.4		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(58-60)gGc>gCc		mitogen-activated protein kinase kinase kinase 5							5.0	5.0	5.0					6																	137113237		1768	3460	5228	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137113237C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.59G>C	6.37:g.137113237C>G	ENSP00000351908:p.Gly20Ala	True	False		Somatic	0					p.G20A	NM_005923.3	NP_005914.1	WXS	Illumina HiSeq	Phase_I	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	1	419	-	Colorectal(23;0.24)		20					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.59G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228890	0.22542	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.68624	-0.34	3.56	1.67	0.24075	.	0.634408	0.14920	N	0.290736	T	0.20170	0.0485	N	0.14661	0.345	0.18873	N	0.999985	B	0.13594	0.008	B	0.11329	0.006	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.361	0.26745	0.1664:0.7407:0.0:0.0929	.	20	Q99683	M3K5_HUMAN	A	20;100	ENSP00000351908:G20A	ENSP00000351908:G20A	G	-	2	0	MAP3K5	137154930	0.535000	0.26370	0.016000	0.15963	0.025000	0.11179	2.498000	0.45363	0.287000	0.22375	0.573000	0.79308	GGC		0.751	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1	0			6:137113237
CKAP5	9793	broad.mit.edu	37	11	46783565	46783565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:46783565G>T	ENST00000529230.1	-	32	4252	c.4206C>A	c.(4204-4206)ttC>ttA	p.F1402L	CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAATCAGTTTGAACACCTGAT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1		NA																	0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4204-4206)ttC>ttA		cytoskeleton associated protein 5							124.0	102.0	110.0					11																	46783565		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46783565G>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4206C>A	11.37:g.46783565G>T	ENSP00000432768:p.Phe1402Leu	True	False		Somatic	0				CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L	p.F1402L			WXS	Illumina HiSeq	Phase_I	Q14008	CKAP5_HUMAN			32	4252	-			1402					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4206C>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057912	0.76074	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.046816	0.85682	D	0.000000	T	0.46151	0.1378	L	0.51422	1.61	0.80722	D	1	P;B;B	0.46859	0.885;0.004;0.005	P;B;B	0.45753	0.492;0.003;0.005	T	0.19582	-1.0301	10	0.25106	T	0.35	-9.4526	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1402;1402;1402	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	1402;1402;1402;1402;125	ENSP00000432768:F1402L;ENSP00000395302:F1402L;ENSP00000310227:F1402L;ENSP00000346566:F1402L	ENSP00000310227:F1402L	F	-	3	2	CKAP5	46740141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	TTC		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	NM_014756		11:46783565
TMPRSS11D	9407	broad.mit.edu	37	4	68725370	68725370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:68725370C>T	ENST00000283916.6	-	2	133	c.35G>A	c.(34-36)aGa>aAa	p.R12K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	12					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCAGAAATCTTGAAGTCGA	0.388																																						ENST00000283916.6		NA																	0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(34-36)aGa>aAa		transmembrane protease, serine 11D							98.0	88.0	91.0					4																	68725370		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725370C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.35G>A	4.37:g.68725370C>T	ENSP00000283916:p.Arg12Lys	False	False		Somatic	0				UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	p.R12K	NM_004262.2	NP_004253.1	WXS	Illumina HiSeq	Phase_I	O60235	TM11D_HUMAN			2	133	-			12					Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.35G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905995	0.72868	.	.	ENSG00000153802	ENST00000283916	D	0.88046	-2.33	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000010	D	0.89529	0.6741	L	0.61387	1.9	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	D	0.88677	0.3199	10	0.41790	T	0.15	.	14.0925	0.65000	0.0:1.0:0.0:0.0	.	12	O60235	TM11D_HUMAN	K	12	ENSP00000283916:R12K	ENSP00000283916:R12K	R	-	2	0	TMPRSS11D	68407965	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	1.993000	0.40747	2.704000	0.92352	0.563000	0.77884	AGA		0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	0	NM_004262		4:68725370
FAT4	79633	broad.mit.edu	37	4	126411862	126411862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:126411862G>A	ENST00000394329.3	+	17	13898	c.13885G>A	c.(13885-13887)Gcc>Acc	p.A4629T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4629					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAGCATCGCCCCTTCGGA	0.512																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13885-13887)Gcc>Acc		FAT atypical cadherin 4							75.0	73.0	74.0					4																	126411862		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411862G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13885G>A	4.37:g.126411862G>A	ENSP00000377862:p.Ala4629Thr	True	False		Somatic	0				FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	p.A4629T	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			17	13898	+			4629					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13885G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493760	0.64186	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91945	-2.94;-2.39	4.95	4.95	0.65309	.	0.000000	0.34110	U	0.004241	D	0.94807	0.8323	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.94547	0.7750	10	0.45353	T	0.12	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2870;4629;4628	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	4629;2870	ENSP00000377862:A4629T;ENSP00000335169:A2870T	ENSP00000335169:A2870T	A	+	1	0	FAT4	126631312	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GCC		0.512	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126411862
THBS3	7059	broad.mit.edu	37	1	155170966	155170966	+	Silent	SNP	G	G	A	rs150820199	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:155170966G>A	ENST00000368378.3	-	12	1379	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_Intron|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Silent_p.N333N|THBS3_ENST00000541990.1_De_novo_Start_OutOfFrame|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	453	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N453N(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCACACACGTTCCCATTCC	0.567																																						ENST00000541990.1		NA																	1	Substitution - coding silent(1)	p.N453N(1)	endometrium(1)	breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48								thrombospondin 3		G		1,4405	2.1+/-5.4	0,1,2202	204.0	165.0	178.0		1359	0.4	1.0	1	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS3	NM_007112.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		453/957	155170966	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170966G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1359C>T	1.37:g.155170966G>A		True	False		Somatic	0				RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Silent_p.N333N|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000368378.3_Silent_p.N453N				WXS	Illumina HiSeq	Phase_I	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		0	1365	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		NA					B1AVR8|B4DQ20|Q8WV34	Translation_Start_Site	SNP	ENST00000368378.3	37		CCDS1099.1																																																																																				0.567	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	0	NM_007112		1:155170966
ANKRD24	170961	broad.mit.edu	37	19	4219594	4219594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:4219594C>T	ENST00000600132.1	+	19	3286	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGTGCAGCGTGAGGCCCT	0.572																																						ENST00000600132.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3010-3012)Cgt>Tgt		ankyrin repeat domain 24							68.0	77.0	74.0					19																	4219594		2199	4298	6497	SO:0001583	missense	170961							g.chr19:4219594C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3010C>T	19.37:g.4219594C>T	ENSP00000471252:p.Arg1004Cys	False	False		Somatic	0				ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C	p.R1004C	NM_133475.1	NP_597732.1	WXS	Illumina HiSeq	Phase_I	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3286	+			1004					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3010C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854693	0.51376	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37058	1.24;1.22	3.79	-0.142	0.13448	.	.	.	.	.	T	0.41213	0.1149	L	0.27053	0.805	0.41774	D	0.989783	D	0.89917	1.0	D	0.79784	0.993	T	0.23511	-1.0186	9	0.54805	T	0.06	.	9.5198	0.39129	0.5842:0.4158:0.0:0.0	.	1004	Q8TF21	ANR24_HUMAN	C	1004;1094	ENSP00000321731:R1004C;ENSP00000262970:R1094C	ENSP00000262970:R1094C	R	+	1	0	ANKRD24	4170594	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	0.829000	0.27449	-0.035000	0.13691	0.313000	0.20887	CGT		0.572	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	0	XM_114000		19:4219594
SNHG14	104472715	broad.mit.edu	37	15	25490493	25490493	+	RNA	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:25490493G>A	ENST00000453082.2	+	0	2644				SNORD115-42_ENST00000364273.1_RNA|SNORD115-40_ENST00000606510.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCCAGTGTCCGTCAGCCTGGT	0.617																																						ENST00000453082.2		NA																	0					NA																																														0							g.chr15:25490493G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25490493G>A		False	False		Somatic	0						NR_003343.1		WXS	Illumina HiSeq	Phase_I					0	2644	+			NA						RNA	SNP	ENST00000453082.2	37																																																																																						0.617	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2	0			15:25490493
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418																																						ENST00000341164.4		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1771-1773)aCg>aTg		zinc finger protein 606							90.0	88.0	89.0					19																	58490276		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490276G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met	True	False		Somatic	0				ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	p.T591M	NM_025027.3	NP_079303.2	WXS	Illumina HiSeq	Phase_I	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2392	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	591					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1772C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	0	NM_025027		19:58490276
